XLRP

Disease Category: x-linked

Treatment Options: Nothing approved

Patient Population: 20,000 (in US & Europe)

Strategies to Preserve Eye Health: Protection from UV exposure; vitamin supplements, in some cases

Active Clinical Trials: 17

Institution(s) Conducting Research: University of Texas, Houston; Radboud University; University of Alberta; Casey Eye Institute

Check clinicaltrials.gov for updates

A FACE OF RP

TBD

Brooklyn, NY

BRIEF DESCRIPTION

X-linked retinitis pigmentosa (XLRP) is a rare, inherited genetic eye disease that causes gradual vision loss and eventually blindness. It's caused by a mutation in the RPGR gene on the X chromosome, which affects men and women differently.

XLRP is a severe form of retinitis pigmentosa (RP), a group of rare genetic eye diseases that damage light-sensitive cells in the retina. The most common type of RP is autosomal recessive, which affects about 50–60% of people with RP.

IN THE NEWS

Mar 14

Gene Therapy Improves Functional Measures in XLRP

Patients with XLRP treated with AGTC-501 gene therapy experienced improvements in visual function including retinal sensitivity . . .

Jan 31

A Systematic Literature Review of Disease Progression Reported in RPGR-associated X-Linked Retinitis Pigmentosa

A systematic literature review was conducted to assess available data on disease progression in RPGR-associated XLRP.

Jun 9, 2023

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

Formulate recommendations for designing XLRP gene therapy clinical studies to provide the best chance of successful treatment development.

Apr 3, 2003

X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15

RPGR mutations were assessed in families with XLRP and a strategy for analyzing highly repetitive mutational hot spots in exon ORF15.